摘要随着分子诊断技术的发展及普及,传统的遗传代谢病概念受到挑战,需要重新定义.无论基因导致的缺陷是否起源于肝胆,凡基因突变导致肝胆功能或结构异常的遗传性疾病均可称为遗传性肝病.人类孟德尔遗传数据库有肝脏表型并且分子机制明确的遗传性疾病693种.随着感染性肝病得到治疗和控制,加强遗传性肝病诊治研究的重要性凸显,这不仅在国内外儿童肝病领域成为共识,也被成人肝病专家所认可.所有不明原因肝病及肝胆受累的多系统疾病患者,除外感染、免疫、药物及解剖异常等因素后应排查遗传性肝病的可能.详细的临床表型、基因诊断及代谢组学分析有望让更多疑难肝病患者得以确诊并接受有效治疗.

abstractsThe advancement and popularization of molecular diagnostic techniques has challenged and redefined the traditional concept of genetic metabolic disease.Regardless of disease origin,all genetic defects that lead to hepatobiliary dysfunction or structural abnormalities are termed as genetic liver disorders.Online Mendelian Inheritance in Man (OMIM) is a database consisting 693 genetic diseases with clear molecular mechanism of liver related phenotypes.Moreover,the effective measures to control infectious liver disease have strengthened the importance of research in the field of (adult and children) genetic liver disorders at home and abroad by well-recognized hepatologists.Notably,all patients with unexplained hepatopathy and multiple system diseases involving liver and gallbladder needs screening for genetic liver disorders,except for factors such as infection,immunity,drug-related,and anatomical abnormalities.We hope more patients with complicated liver disorders will benefit from definitive diagnosis and effective treatment in the near future with clear explanation of clinical phenotype,genotype,and metabolomics.